Canonical Allele Identifier: CA2778737116

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780502_1780503del , CM000670.2:g.1780502_1780503del	GRCh38
NC_000008.10:g.1728668_1728669del , CM000670.1:g.1728668_1728669del	GRCh37
NC_000008.9:g.1716075_1716076del	NCBI36
NG_008656.2:g.29725_29726del , LRG_691:g.29725_29726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.796_797del MANE Select	ENSP00000328182.4:p.Ala266ThrfsTer?
ENST00000519254.2:c.796_797del	ENSP00000490016.1:p.Ala266ThrfsTer?
ENST00000520991.3:c.*207_*208del	ENSP00000487905.2:n.*207_*208del
ENST00000635751.1:c.796_797del	ENSP00000489694.1:p.Ala266ThrfsTer?
ENST00000635773.1:c.496+8905_496+8906del
ENST00000635855.1:c.543+8905_543+8906del	ENSP00000489726.1:n.543+8905_543+8906del
ENST00000635970.1:c.796_797del	ENSP00000490439.1:p.Ala266ThrfsTer?
ENST00000636175.1:c.343+8905_343+8906del
ENST00000636934.1:c.543+8905_543+8906del	ENSP00000490218.1:n.543+8905_543+8906del
ENST00000637083.1:c.796_797del	ENSP00000490235.1:p.Ala266ThrfsTer?
ENST00000637156.1:c.796_797del	ENSP00000490458.1:p.Ala266ThrfsTer?
ENST00000331222.4:c.796_797del	ENSP00000328182.4:p.Ala266ThrfsTer?
ENST00000519254.1:n.315_316del
ENST00000523237.1:n.571_572del
NM_018941.3:c.796_797del , LRG_691t1:c.796_797del	NP_061764.2:p.Ala266ThrfsTer?
XM_005266021.3:c.796_797del	XP_005266078.1:p.Ala266ThrfsTer?
XM_005266022.1:c.796_797del	XP_005266079.1:p.Ala266ThrfsTer?
XM_005266023.1:c.796_797del	XP_005266080.1:p.Ala266ThrfsTer?
XM_011534745.1:c.796_797del	XP_011533047.1:p.Ala266ThrfsTer?
XM_011534746.1:c.796_797del	XP_011533048.1:p.Ala266ThrfsTer?
XM_005266021.4:c.796_797del	XP_005266078.1:p.Ala266ThrfsTer?
XM_011534746.2:c.796_797del	XP_011533048.1:p.Ala266ThrfsTer?
NM_018941.4:c.796_797del MANE Select	NP_061764.2:p.Ala266ThrfsTer?